Large deletion in PIGL: a common mutational mechanism in CHIME syndrome? (2018)
- Authors:
- Autor USP: KIM, CHONG AE - FM
- Unidade: FM
- DOI: 10.1590/1678-4685-GMB-2017-0172
- Subjects: SEQUENCIAMENTO GENÉTICO; RETÍCULO ENDOPLASMÁTICO; MUTAÇÃO GENÉTICA; SINAIS E SINTOMAS
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Publisher place: Ribeirao Pret
- Date published: 2018
- Source:
- Título: Genetics and Molecular Biology
- ISSN: 1415-4757
- Volume/Número/Paginação/Ano: v. 41, n. 1, p. 85-91, 2018
- Status:
- Artigo publicado em periódico de acesso aberto (Gold Open Access)
- Versão do Documento:
- Versão publicada (Published version)
- Acessar versão aberta:
-
ABNT
CERONI, Jose R. M. et al. Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?. Genetics and Molecular Biology, v. 41, n. 1, p. 85-91, 2018Tradução . . Disponível em: https://doi.org/10.1590/1678-4685-GMB-2017-0172. Acesso em: 30 mar. 2026. -
APA
Ceroni, J. R. M., Kim, C. A., Yamamoto, G. L., Honjo, R. S., Passos-Bueno, M. R., & Bertola, D. R. (2018). Large deletion in PIGL: a common mutational mechanism in CHIME syndrome? Genetics and Molecular Biology, 41( 1), 85-91. doi:10.1590/1678-4685-GMB-2017-0172 -
NLM
Ceroni JRM, Kim CA, Yamamoto GL, Honjo RS, Passos-Bueno MR, Bertola DR. Large deletion in PIGL: a common mutational mechanism in CHIME syndrome? [Internet]. Genetics and Molecular Biology. 2018 ; 41( 1): 85-91.[citado 2026 mar. 30 ] Available from: https://doi.org/10.1590/1678-4685-GMB-2017-0172 -
Vancouver
Ceroni JRM, Kim CA, Yamamoto GL, Honjo RS, Passos-Bueno MR, Bertola DR. Large deletion in PIGL: a common mutational mechanism in CHIME syndrome? [Internet]. Genetics and Molecular Biology. 2018 ; 41( 1): 85-91.[citado 2026 mar. 30 ] Available from: https://doi.org/10.1590/1678-4685-GMB-2017-0172 - NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene
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